title: A case of aniridia with unilateral Peters anomaly.
abstract: Aniridia is an autosomal-dominant, panocular, congenital anomaly transmitted with high penetrance and largely caused by mutations in the PAX6 gene. Although Peters anomaly may also be caused by mutations in PAX6, there has not to our knowledge been a report of aniridia associated with lens displacement into the anterior chamber and lenticular-corneal attachment. We report a child with aniridia and Peters anomaly associated with a PAX6 gene mutation.
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Mayu
authors.initials: M
authors.lastname: Sawada
authors.forename: Miho
authors.initials: M
authors.lastname: Sato
authors.forename: Akiko
authors.initials: A
authors.lastname: Hikoya
authors.forename: Chunxia
authors.initials: C
authors.lastname: Wang
authors.forename: Shinsei
authors.initials: S
authors.lastname: Minoshima
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Azuma
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Hotta
mesh_terms: D015783:Aniridia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D000869:Anterior Eye Segment / Q000002:abnormalities / Q000000981:diagnostic imaging; D018389:Codon, Nonsense; D003318:Corneal Opacity / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D005124:Eye Abnormalities / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins / Q000235:genetics; D014463:Ultrasonography
chemical_list: D018389:Codon, Nonsense; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins